Biology Genetics Flashcards

Terms Definitions
(Anti)codon? mRNA
totally, undeniably random
Chromosomes of Eukaryotes
Individual with both sexes
Gregor Mendel
Father of Genetics
agents that cause mutationsex-radiationsmokechemicals
Downs syndroms
extra 21st chromosome
Responsible for carrying oxygen molecules from lungs to cell
Protein-RNA complex enzyme responsible for the elongation and replication of DNA at the telomeres of the chromosome.
bacterial DNA fragment transferred from one cell to another via a phage particle containing bacterial DNA
Walter Sutton and Theodor Boveri
The head of the penis
observed trait, masks recessive allele, capital letters
Standard deviation
Square root of variance
outward appearance of an organism, regardless of its genes.
Sex Chromosome
Chromosome that determines the sex
the genetic make-up of an organism
production of gametes in a male
bad recessive homozygote mutation that kills the animal
-losing Raly gene can cause this
STOP codon signals translation to stop
lovers of superheat (extreme heated temperatures)
the pair of homologous chromosomes, still held together by the chiasmata , move to the central plane of the cell that is perpendicular to the axis of the spindle apparatus
F factors containing bacterial genes are called...
Which molecule selectively binds allolactose?
lac repressor
Procedure used for prenatal genetic testing to obtain a sample of amniotic fluid from a pregnant woman. A long sterile needle is inserted through the ab wall into the amniotic sac to obtain the fluid.
16. Hybrid
offspring formed by parents having different forms of a specific trait
Catalyzes the breaking of hydrogen bonds between nucleotides. Open double helix
RNA polymerase
combines with promoter to begin process of transcription
adds the correct base at the correct position
continues the process until it hits the termination signal
An organism has 2n=16, how many gametes can be produced?
absolute risk
The probability that an individual will develop a particular condition, based on family history and/or test results.
polygenic inheritance
a single phenotypic character is affected by two or more genes
First affected family member who seeks medical attention for a genetic disorder.
When 2 genes control 1 characteristic with multiple phenotypes, this is called:
all chromosomes derive from a single diploid ancestor
Allosteric site
sensor that sets the DNA-binding domain to functional or nonfunctional, and interacts with allosteric effectors
a prokaryotic cell
transcription and translation happen simultaneously in...
the degree that a genotype is exhibited in the phenotype. A mutant phenotype can be expressed at different levels of severity.
bacteria that can grow on minimal media with salts and glucose
Incomplete penetrance
not everyone will express the phenotype of a given genotype; exp. polydactyly
a single polypeptide in a protein containing multiple polypeptides
Anaphase 2
sister chromatids separate and move toward opposite poles
Functional Genomics
Study of genome-wide gene expression patterns and networks of protein interactions.
Process in which chromosomes of a eukaryotic cell divide to give rise to haploid reproductive cells. Consists of two divisions: meiosis I and meiosis II
Haploid sex cells (egg or sperm) produced as a result of meiosis.
a portion of DNA between coding regions in a gene that is transcribed but does not appear in the mRNA product
X Chromosome
Rod shaped sex chromosomes. Females have 2, males have 1.
Francis Crick
correctly concluded that the code was degenerate
a region of DNA that increases gene expression in eukaryotes
The use or alteration of cells or biological molecules for specific applications
study of all the proteins expressed by and individual or organism
the condition where both alleles of a pair are alike
Mitosis - Telophase
Chromosomes arrive at spindle poles. The nuclear membrane re-forms and the chromosomes relax.
Apply the product law to a coin-flip situation. What is the probability that on three flips of a coin, heads will occur on all three flips?
Sequence of bp in a DNA strand determines the sequence of amino acids in a protein in a colinear mannerMutants in the DNA will cause mutants in the same place on a dNA chain
sex linked recessive gene is carried on the
X chromosome
The fusion of sperm and egg produced by the same individual organism.
Supercoiling, histone, nucleosomes
In prokaryotes, chromosomal dna is packaged through ______. In eukaryotes dna is packaged with ______ proteins into ________
Norm of Reaction
set of relationships between heredity and environment; single genotype can produce different phenotypes under different environmental conditions; opposite is also true
Chromosome Map
A representation of all chromosomes in the genome as lines, marked with the positions of genes. Also shows distances between the loci based on some kind of scale.
dosage compensation
Equalization in males and females of the amount of protein produced by X-linked genes. In placental mammals , dosage compensation is accomplished by the random inactivation of one X chromosome in the cells of females.
a DNA sequence reminiscent of a gene but which is not translated (may or may not be transcribed.)--pretty much a false gene --comes from duplications
DNA fingerprint?
pattern of simulatneous genotypes at a group of unlinked loci
Species Characteristic
Characteristics that every member of a species possesses.
Reasons for cell division?
Asexual reproduction of unicellular organismsDevelopment and growth of multicellular organismsWound healingMaintenance and replacement
The lack of pigmentation in skin color in humans,
Name four autosomal recessive genetic disorders mentioned in Chance's Choices and the Human Genetics Problems.
PKU, B-Thalessemia, cystic fibrosis, and alibinism
genetic engineering
the process of moving DNA from one organism to another
chorionic villi sampling
sample is taken from the tissue between the uterus and the placenta
Neutral mutation
A mutation that results in no change in polypeptide function, but does have a change in amino acid.
Somatic cell hybridization
used to localize genes on specific chromosomesis based on fusion of 2 different lines of cellshybrid cells will not keep all the chromosomes and will lose them randomly
_____________ (3 words) studies aim to identify regions of the chromosomes where genes implicated in complex traits are located.
Whole Genome Association
Huntington’s disease
A human genetic disease caused by a dominant allele; characterized by uncontrollable body movements and degeneration of the nervous system; usually fatal 10 to 20 years after the onset of symptoms.
Describe Avery, MacLeod, and McCarty's experiment and state what year it occurred.
-1944-added to Griffith's experiment-used different enzymes (Protease, RNase, DNase) to destroy parts of DNA to eventually discover that DNA is the transforming substance because DNase destroyed the transforming substance
Via what is DNA  transfered to the recipient
sex pilli
lyon hypothesis
proposes that one x chromosome in each female cell becomes inactivated (a barr body) and suggests that which X becomes inactivated is random and varies from cell to cell
Independent Assortment (random assortment) and Recombination (crossing-over)
Two phenomena contributing to the generation of genetic variability during meiosis.
Pollen grains
Small sacs that mature in the male reproductive structure of the plant.
one gene-one enzyme hypothesis
The hypothesis that each gene controls the synthesis of one enzyme.
what are the different types of chromosome pairs in sexes?
homomorphic chromosome pairs (XX)heteromorphic chromosome pairs (XY)homogametic v heterogametic sex
What are examples of sex-linked traits?
color blindness, hemophilia, some forms of baldness.
what is the structure of ribosomes
two parts: small(bottom) and large(top) both of them only connect during translation -made up of ribosomes
What does eukaryotic polymerase IV do?
-synthesizes some siRNAs in plants
Addition Rule
the probability of any one of two or more mutually exclusive events is calculated by adding the probabilities of these events
What type of individual to you cross with your unknown genotype in a testcross?
a homozygous recessive
What was Thomas Hunt Morgan's study mechanism?
criss cross pattern of inheritance
dad passes dominant trait to daughter and mother passes recessive allele to son in a pseudodominant manner
simple mechanism for trp regulation
trp repressor binds trp and switches OFF transcription when adequate levels of the AA are present.
First Polar Body
One of the products of meiosis 1 in oogenesis; contains half the chromosomes but little of the cytoplasm
What are 2 example of autosomal recessive disorders?
Cystic Fibrosis and Tay Sachs
what is the F factor
some magical thing in BAC that allows us to clone in massive amounts of recombinant dna
Name the polymerases used in bacterial elongation and describe the function of each.
-Polymerase I: removes and replaces primers bc of 5' to 3' exonuclease action, has 3'->5' exonuclease action to back up and repair some DNA -Polymerase II: DNA repair, restarts replication after damaged DNA halts synthesis-Polymerase III: main workhorse of replication, elongates DNA-Polymerase IV: DNA repair-Polymerase V: DNA repair, translesion DNA synthesis
What is a bottleneck effect?
when a population decreases and only a few alleles can pass through the tiny population, resulting in genetic drift and/or fixed allelesEx. Cheetahs (almost all identical) Northern elephant seals Bison
What does the G2/M checkpoint look for and how does it do it?
evaluates whethe DNA replication is completed and done properly. This checkpoint uses MPF.
What is a homozygous recessive disease that we talked about in class?
Cystic Fibrosis. The CTFR gene transports Cl- ions back and forth across membranes to establish water gradients. There is a deffect in this gene which makes less water on one side of the membrane. This can cause organ failure.
What does the Chi Square test do?
it correlates to a probabilty (via the chart). this probability is the probability that our finding is solely due to chance and random events.
In regards to fertility; recipricol traslocation causes what effect?
Half are steril because gb not = 1 but of teh fertil gamets half contain translocation chromosomes.
What is ploidy referring to? What is haploid? What is diploid?
Ploidy is referring to the number of cells.Haploid - 1NDiploid - 2NN refers to the chromosome number
sex cell
one, single
For linked genes!
synthesizes RNA
Somatic cells
regular body cells
organelles and macromolecules distrubuted
cells seperate
paracentric inversions?
both create .....?
across centromere
aside centromere
imblalanced gametes
Peptide bond
holds amino acids together
sees chromosomes using colored dyes
rate of forward is          higher than reverse
-genes located on sex chromosomes-hemophilia and color blindness
Synaptonemal complex
proteinaceous structure between pairing chromosomes; consists of three parallel rods, one associated with each of the chromosomes, one located mid-way between them ; occurs during zygotene
the mating of related individuals
Topoisomerase type II
cleaves both strands
independent assortment
independent segregation of genes during the formations of gametes
An alternate form of a gene.
Multiple Cloning Site in plasmidswhere many different restriction endonucleases cut
what is s-35?
radioactive sulfer labeled protein
FISH is?
labeling a gene by fluorescense
where intron splicing takes placehas proteins and SnRNPS which contain sequences complimentary to the RNA
Arthur Kornberg
studied ingredients for DNA replication
Severe combined Immunodeficiency
Hyperchloresterolemia Family. Cystic Fibrosis. Ashanti DeSilva 1990 1st person to be treated.
Metacentric, submetacentric, acrocentric
3 placements of centromere
southern blotting
the transfer of electrophoretically separated fragments of DNA from a gel to an absortbent sheet such as paper; this sheet is then immersed in a solution containing a labeled probe that will bind to a fragment of interest
The production of a wild-type phenotype in dihybrid offspring of two recessive mutant parents due to completion in the offspring of a biochemical or developmental pathway.
The discovery of Okazaki fragments suggested that DNA synthesis is
What is the study of heredity?
Sex-linked traits
traits determined by sex-linked genes which are genes located on or linked to the X chromosome. autosome=all other chromosomes except the sex chromosomes
region of DNA that decreases gene expression in eukaryotes
natural selection
the different reproduction of gametes comes from factors in the environment, and leads to evolutionary change through time
Suveeillance mechanisms
protein complexes that oversee the checkpoints. most of them use CDK's
polygenic characteristic
characteristics encoded by genes at many loci
Gene map
diagram showing the ralitive locations of each known gene on a particular chromosome
what is the basic unit of heredity
human male considered hemizygous for x linked traits because only has one X
enzyme that catalyzes the formation of RNA primer to initiate synthesis
20 A
the double helix is how wide
gel electrophoresis
process by which fragments of different sizes and elctrochemical properties are separated by thier migration through an electrically charged gel
Genetic code
a set of correspondences between nucleotide-pair triplets in DNA and AAs in protein
A certain type of congenital deafness is caused by a rare autosomal recessive gene. A man and a woman, both with normal hearing, have a son with this type of deafness. Even though they are carriers of this recessive allele, they decide to have another c
A cross of a phenotypically dominant individual of unknown genotype with a homozygous recessive individual in order to determine the genotype of the dominant individual.
Prokaryote cell reproduction
-simple division: separation of replicated circular chromosome-origin of replication-high rate of replication
Incomplete Dominance(dominus)
When a heterozygous organism displays a blending of both traits(if red and white are co-dominant,then a red allele + white allele = pink flower)
radial array of short microtubles that extends from each centrosome toward the plasma membrane in a cell undergoing mitosis.
Pedigree Analysis
- males are indicated by squares
- females are indicated by circles
- to tell between autosomal recessive vs. sex-linked recessive, if only males are affected, suspect sex linkage
Garrod in England
was a doctor who became interested in syndromes he saw in his patients that seemed to be heritable.  proposed that these accumulations were due to blocks in normal metabolism and even tried experiments in which he modified the diets of his patients and measured homogentisic acid levels as a result.  
process in which mRNA attaches to the ribosome and a protein is assembled.
2 hypotheses for how mutation occurs
they occur randomly(correct)
physiological response to bactericide
When both traits show together in an individual side by side.
ex. AB blood type
A cell with a hard protective covering that is capable of producing a new organism.
If a homozygous brown-eyed woman mates with a homozygous blue-eyed man, what would be the chances of producing a blue-eyed child?
A. 100%
B. 75%
C. 50%
D. 25%
E. 0%
E. 0%
heterogametic sex
sex chromosomes - one of the homologues carrying the major sex determination gene become degenerate or otherwise cytologically distinct.
what is the arrangement of DNA in chloroplasts/mitochondria?
histone remodeling
amino-terminal tails stick out and can be modified in various ways; tails have lysine residues that are readily modified by enzymes- attach acetyl and methyl groups or ubiquitinate or phosphorylate; These modifications are often reversible, and may be involved in a particular gene's ability to be expressed or shut down in different generations of the cell.
restriction fragment
a DNA fragment resulting from cutting DNA with a restriction enzyme
complementation test
test designed to determine whether two different mutations are at the same locus (are allelic) or at difrerent loci (are nonallelic). Two individuals that are homozygous for two independently derived mutations are crossed, producing F1 progeny that are heterozygous for the mutations. If the mutations are at the same locus, the F1 will have a mutation phenotype. If the mutations are at different loci, the F1 ill have a wild-type phenotype.
Gene Flow
Transfer of genes from one population to another through migration, leading to a change in allele frequencies.
F factor
Episome of E coli that controls conjugation and gene exchange between E coli cells. The F factor contains an origin of replication and genes that enable the bacterium to undergo conjugation
one diploid cell gives rise to two diploid cells
Symptoms of Down Syndrome
slanted eyeslower IQstubby fingers and toes
Dihybrid Cross
A genetic cross involving 2 pairs of genes.
Law of independent assortment
Inheritance of one characteristic has no effect on another
Genotypes for pink flower, red flower, and white flower
due to alterations in DNA that do not include changes in the base sequence,often affect the way the DNA sequence in expressed
Allele frequency
% the number of a given allele represents in the total number of genes
(>1%: wild type
<1%: mutant type)
mRNA connects (via H bond) to the A (incoming) site during translation
Gene Mapping in Humans
Use Pedigree Analysis. Haldane and Smith used Lod Score Method 1st. Then George Barsky used Somatic Cell Hybridization.
monosomy / female
Turner's syndrome is an example of what where the gender of the person is what
E site
the site on the ribosome where the deacylated tRNA can be found
Viral Chromosomes
Nucleic acid = either ds DNA, ssDNA, ds DNA, or ssRNA (+ or - strand if ss)Form: Linear or circular1 or more moleculesE.g.:T-even: 1 linear dsDNA molecule X174: 1 short ssDNA  phage: 1 linear dsDNA before injection; circularized after injection HIV: 2 ssRNAs
the loss or gain of one or more chromosomes(creates odd number of total chromosomes)
monosomy - 1 copies of one chromosome #
trisomy - 3 copies of one chrom. #
The process of forming a nucleic acid by using another molecule as a template; particularly the process of synthesizing rna by using one strand of a dna molecule as a template
What is the dominant allele for flower color in pe
purple (P)
What are the Classes of Mutation?
1) Point Mutation2) Frameshift Mutation3) Large Deletion, insertion, and Duplication4) Transposition
What is a gene?
A nucleic acid sequence (usually DNA) that codes for a functional polypeptide (set of amino acids) or RNA sequence
Sex-Linked Disorders
An allele inherited on an X or Y chromosome
rule of multiplication
A rule stating that the probability of a compound event is the product of the separate probabilities of the independent events.
the PEST hypothesis
the number of regions rich in the amino acids P, E, S, and T signal to the proteases the lifespan; areas rich in these aa's have a lifespan of 2 minutes or less
When does the ovum complete meiosis II?
After fertilization..YAA SEXY TIME!
what are Topoisomerases?
enzymes that unwind and wind DNA, in order for DNA to control the synthesis of proteins, and in order for DNA to reproduce. They cut the DNA, and at the end of the process connect it again
Explain how alkalating agents damage DNA.
Affect resting DNA. Chemical modification of bases. Base the mis-pairs. This is a substitution process vs. an insertion process.
What is the law of independent assortment?
pairs of alleles separate independently of one another during gamete formation.
What is polycistronic RNA?
RNA that is produced when a single terminator is present at the end of a group of several genes that are transcribed together
The formula Vt = Vg + Ve is an example of ______ trait.
If you have a purple flower but you don't know its genotype, what should you breed with it so that you can quickly find out its genotype?
A homozygous recessive white flower
In humans, the genetic basis for determining the sex "male" is accomplished by the presence of
a portion of the Y chromosome
consequence of women with heteroplasmic LHON mutation after fertilization?
some cells produce low amounts of ATP while others are okay.  if cells with low production are in optic nerve then LHON mutation present
Our genes come in pairs. One for your mom and one
The Law of Segregation
lethal dominant genes are less common because...
they kill homo dom and heterozygotes, lowering their freq in the gene pool
What is a punnett square used for?
to show the probability of traits appearing in an offspring.
where in a human cell could you find multiple (>2) copies of the same dna (other than during mitosis/meiosis)
in mitochondria (and chloroplasts in plants)
How does the f factor move out from HFR
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